Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Likely inborn error of metabolism - targeted testing not possible v1.47 ALG11 Ivone Leong Source NHS GMS was added to ALG11.
Source London North GLH was added to ALG11.
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG11 Ellen McDonagh Added phenotypes ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661 for gene: ALG11
Publications for gene ALG11 were changed from 27604308; 22213132 to 27604308
Likely inborn error of metabolism - targeted testing not possible v0.4 ALG11 Ellen McDonagh gene: ALG11 was added
gene: ALG11 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG11 were set to 27604308; 22213132
Phenotypes for gene: ALG11 were set to ALG11-CDG (Disorders of protein N-glycosylation); Congenital disorder of glycosylation, type Ip 613661